SPG11 Antibody

SPG11 Antibody: Hereditary spastic paraplegias (HSPs) are genetically and phenotypically heterogeneous disorders. Spastic paraplegia with thinning of the corpus callosum (ARHSP-TCC) is a relatively frequent form of complicated hereditary spastic paraplegia (cHSP) in which mental retardation and muscle stiffness at onset are followed by slowly progressive paraparesis and cognitive deterioration. Mutations of the SPG11 gene encoding the spatacsin protein have been identified as a major cause of HSP-TCC. Spatacsin is a potential transmembrane protein that is phosphorylated upon DNA damage. It is expressed in all structures of the brain, with a high expression in the cerebellum. SPG11 mutations may occur more frequently in familial than sporadic forms of cHSP without TCC. Kjellin syndrome is found to be associated with mutations in not only the SPG15 gene but also SPG11 gene. Recent studies show Parkinsonism may initiate SPG11-linked HSP TCC and that SPG11 may cause juvenile Parkinsonism.

SPG11 antibody can be stored at 4˚ C for three months and -20˚ C, stable for up to one year. As with all antibodies care should be taken to avoid repeated freeze thaw cycles. Antibodies should not be exposed to prolonged high temperatures.

Stevanin G, Azzedine H, Denora P, et al. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nature Gen.2007; 39:366-372.

Paisan-Ruiz C, Dogu O, Yilmaz A, et al. SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia. Neurology2008; 70:1384-9.

Crimella C, Arnoldi A, Crippa F, et al. Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum. J. Med. Genet.2009; 46:345-51.

Orlén H, Melberg A, Raininko R, et al. SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. Am. J. Med. Genet. B Neuropsychiatr. Genet.2009; epub.